About EDS

Classifications:

Ehlers-Danlos Syndrome is a group of connective tissue disorders, all of which result from genetic defects in collagen production.  There are 13 types of collagen in our bodies – all affecting different parts and systems.   The types of Ehlers-Danlos Syndrome are broken down according to symptoms and also by the gene involved in causing the collagen deficiency.

This information is only a brief summary of the characteristics of the types; NOT a diagnostic tool.  It is VERY important to remember that many of these types can only be confirmed by genetic analysis and that many types share symptoms.  There is a lot of crossover of symptoms between types and even within one type there can be a wide range of expression of symptoms.

Classical Type

Formerly known as:  EDS Type I & II

Diagnostic Criteria:

Major                                                        

  • Skin hyperextensibility                  
  • Widened atrophic scars                      
  • Joint hypermobility                             
  • Family History

Minor 

  • Smooth, velvety skin
  • Molluscoid psuedotumors
  • Subcutaneous spheroids
  • Complications from joint hypermobility
  • Muscle hypotonia, delayed gross motor development
  • Easy Bruising
  • Manifestations of tissue hyperextensibility
  • Surgical complications (postoperative hernias)                   

                                 

Hypermobility Type

Formerly known as:  EDS Type III

Diagnostic Criteria

Major:

  • Joint hypermobility
  • Soft skin with normal or only slightly increased extensibility
  • Absence of fragility or other significant skin or soft tissue abnormalities

Minor:

  • Positive family history of EDS
  • Recurrent joint dislocations or subluxations
  • Chronic joint, limb, and/or back pain
  • Easy bruising
  • Functional bowel  disorders (functional gastritis, irritable bowel syndrome)
  • Neurally mediated hypotension or postural orthostsatic tachycardia
  • High, narrow palate
  • Dental crowding

Vascular Type

Formerly known as:   EDS Type IV

Diagnostic Criteria

Major:

  • Arterial rupture
  • Intestinal rupture
  • Uterine rupture during pregnancy
  • Family history of the vascular type of EDS

Minor:

  • Thin, translucent skin (especially notable on the chest/abdomen)
  • Easy bruising
  • Characteristic facial appearance (thin lips and philthrum, small chin, thin nose, large eyes)
  • Acrogeria (an aged appearance to the extremities, particularly the hands)
  • Hypermobility of small joints
  • Tendon/muscle rupture
  • Early-onset varicose veins
  • Arteriovenous carotid-cavernous sinus fistula
  • Pneumothorax/pneumohemothorax
  • Chronic joint subluxations/dislocations
  • Congenital dislocation of the hips
  • Clubfoot
  • Gingival recession

Kyphoscoliotic Type

Formerly known as: EDS Type VI

(Information on the Kyphoscoliotic Type of EDS will be posted soon)

Less Common Types:

There are three more official types of Ehlers-Danlos Syndrome, Arthrocalasia, Dermatosparaxis, and Tenascin-X Deficient type.  I will have more specific information on these less common  types available soon. 

For more information on all types of Ehlers-Danlos Syndrome, please visit Ehlers-Danlos Network C.A.R.E.S., Inc by clicking the image below.

 

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5 Responses to “About EDS”

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I have lived a very difficult life, when i was 58 i found a new doctor and found out is have clasic hypermobility,vascular EDS. I have 8 grandchildren and i think 2 or them also have this but theirs state they have never heard of this and will not test the kids 6 and 8. Both show signs of EDS. My mother had it and my neice has it. I am so thankful to find others who have this and that it is not all in my head and i have always been told. I would love to talk with others living with this very painful situation and see how they handle it.

It is definitely not all in your head!! I’m glad to hear you’ve gotten the right diagnosis ~ it will enable you and your family members to get much better treatment. How were you diagnosed? Classic, Hypermobility, and Vascular EDS are three separate forms of the disease with different types of collagen being affected. However, it is very common for the symptoms of different types to overlap one another. This can occasionally cause some confusion over which type a patient has and now there is technology available to narrow it down and get very accurate results. I’ll be happy to give you some more information if you are unsure of whether you’ve been typed correctly or not. Thanks for writing!

Debbie V.

Great website. Plenty of helpful info here. I am sending it to a few friends ans additionally sharing in delicious. And naturally, thank you to your effort!

Hello… I have identical twin sons (now 16) that were finally diagnosed at 11 with EDS. This was after too many ER visits for me to count. They’ve both been sutured, stapled and glued at least a half dozen times each. Finally, after INSISTING that we be sent to see a specialist, they were diagnosed in minutes with EDS. An experienced geneticist simply touched the skin of their arms and knew. He immediately recalled for me all of the torturous experiences we had had up to that point.

They boys are doing an excellent job of living with the condition and its limitations. We’ve thankfully had relatively few dislocations. Most of our issues have been related to the fragility of their skin. In the last month we’ve faced new issues with increasibly frequent nosebleeds. It’s apparently just one more of the various situations one can face with EDS. Previously we were diagnosed as having the classical type but some of the information I am now reading points to nosebleeds and their relation to the vascular type. Should I be increasingly concerned?

We have been pretty diligent with annual visits to the cardiologist but I’m wondering if this new symptom should be heavily pursued. I will be contacting their pediatrician tomorrow but, I find that frequently the posts and blogs have more recent information than the medical professionals.

Hi Rebecca,

I’m very sorry to hear about your sons’ diagnoses, but at the same time understand the “relief” involved by finally knowing that you’re not imagining things. If the diagnoses were made by a geneticist (could you tell me which hospital) then you can be pretty sure it’s correct. Based on who it was and how much experience they have with various connective tissue disorders, they are many times accurate with their typing. Doctors in the other specialties are more likely to misdiagnose than geneticists in my experience. There are though many, many crossover symptoms between classical and vascular and classical carries its own significant risks including vascular complications. The definitive difference would lie in which type of collagen the boys are deficient in. I’m guessing that if he/she was pretty certain about the type, then no biopsy or blood tests were done – which isn’t unusual b/c most insurance companies are reluctant to pay for them. Unfortunately, you’re probably right about your pediatrician – they are usually the LEAST informed on the subtleties of any form of Ehlers-Danlos Syndrome. What area of the country are you in? I may be able to recommend other doctors or facilities that are better informed and more suited to help you and your boys.

Wishing you the best,

Debbie V.


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